磷酸化乳腺癌易感基因1抗体

磷酸化乳腺癌易感基因1抗体 Background: This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants have been described for this gene but only some have had their full-length natures identified. Transcript Variant: This variant (BRCA1a') uses different splice site in the 5' UTR when compared to variant BRCA1a. It encodes the full-length BRCA1 protein (isoform 1) which is also known as p220. Variants BRCA1a and BRCA1b also encode the full-length BRCA1 protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. Also known as: BRCA1(Phospho-Ser1524); BRCA1 (phospho S1524); p-BRCA1 (phospho S1524); BRCA 1; BRCA1; BRCA1/BRCA2 containing complex subunit 1; BRCA1/BRCA2-containing complex, subunit 1; BRCA1_HUMAN; BRCAI; BRAC 1; BRCA 1; BRCC 1; BRCC1; Breast Cancer 1; Breast Cancer 1 Early Onset; Breast cancer type 1 susceptibility protein; Breast and ovarian cancer susceptibility protein 1; Breast Ovarian Cancer Susceptibility; IRIS; Papillary Serous Carcinoma Of The Peritoneum; PSCP; RING finger protein 53; BROVCA1; IRIS; PNCA4;磷酸化乳腺癌易感基因1抗体